Knowledge base for genomic medicine in Japanese
特発性拡張型心筋症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)TNNI3Pathogenic195566551455665514GCcriteria provided, multiple submitters, no conflictsClinGen:CA021660,UniProtKB:P19429#VAR_007603,OMIM:191044.0001
single nucleotide variantNM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)TNNI3Pathogenic/Likely pathogenic195566324955663249CTcriteria provided, multiple submitters, no conflictsClinGen:CA022006,UniProtKB:P19429#VAR_016085,OMIM:191044.0004
single nucleotide variantNM_000363.5(TNNI3):c.575G>A (p.Arg192His)TNNI3Pathogenic195566326055663260CTcriteria provided, multiple submitters, no conflictsClinGen:CA021957,UniProtKB:P19429#VAR_016084,OMIM:191044.0006
single nucleotide variantNM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)TNNI3Pathogenic195566541555665415TCcriteria provided, single submitterClinGen:CA021835,UniProtKB:P19429#VAR_016082,OMIM:191044.0007
single nucleotide variantNM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)TNNI3Pathogenic195566551455665514GAcriteria provided, multiple submitters, no conflictsClinGen:CA021667,UniProtKB:P19429#VAR_016080,OMIM:191044.0008
single nucleotide variantNM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)TNNI3Pathogenic195566846555668465GAcriteria provided, multiple submitters, no conflictsClinGen:CA022092,OMIM:191044.0016
single nucleotide variantNM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)TNNC1Likely pathogenic35248530152485301CTcriteria provided, single submitterClinGen:CA122392,OMIM:191040.0001
single nucleotide variantNM_003280.3(TNNC1):c.23C>T (p.Ala8Val)TNNC1Pathogenic/Likely pathogenic35248800952488009GAcriteria provided, multiple submitters, no conflictsClinGen:CA122397,UniProtKB:P63316#VAR_063070,OMIM:191040.0003
single nucleotide variantNM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)TPM1Pathogenic156335311463353114AGcriteria provided, multiple submitters, no conflictsClinGen:CA019017,UniProtKB:P09493#VAR_007602,Leiden Muscular Dystrophy (TPM1):TPM1_00010,OMIM:191010.0001
single nucleotide variantNM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)TPM1Pathogenic156335309863353098GAcriteria provided, multiple submitters, no conflictsClinGen:CA018106,UniProtKB:P09493#VAR_007601,Leiden Muscular Dystrophy (TPM1):TPM1_00009,OMIM:191010.0002